Linked Data
dbSNP Id:
rs201701066
ExAC:
4:178363478 G / C
gnomAD v2:
4-178363478-G-C
gnomAD v3:
4-177442324-G-C
gnomAD v4:
4-177442324-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177442324G>C , CM000666.2:g.177442324G>C | GRCh38 |
| NC_000004.11:g.178363478G>C , CM000666.1:g.178363478G>C | GRCh37 |
| NC_000004.10:g.178600472G>C | NCBI36 |
| NG_011845.2:g.5180C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264595.7:c.52C>G MANE Select | ENSP00000264595.2:p.Gln18Glu | |
| ENST00000264595.6:c.52C>G | ENSP00000264595.2:p.Gln18Glu | |
| ENST00000506853.5:n.86C>G | ||
| ENST00000510955.5:n.86C>G | ||
| ENST00000511231.1:n.86C>G | ||
| NM_000027.3:c.52C>G | NP_000018.2:p.Gln18Glu | |
| NM_001171988.1:c.52C>G | NP_001165459.1:p.Gln18Glu | |
| NR_033655.1:n.180C>G | ||
| XM_006714123.2:c.52C>G | XP_006714186.1:p.Gln18Glu | |
| XR_001741155.2:n.146C>G | ||
| NM_000027.4:c.52C>G MANE Select | NP_000018.2:p.Gln18Glu | |
| NM_001171988.2:c.52C>G | NP_001165459.1:p.Gln18Glu | |
| NR_033655.2:n.114C>G |